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1 . Academic Journal
Hereditary orotic aciduria identified by newborn screening
저자
by
Orna Staretz-Chacham
;
Nadirah S. Damseh
;
Suha Daas
;
Nasser Abu Salah
;
Yair Anikster
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Vici syndrome in Israel: Clinical and molecular insights
저자
by
Odelia Chorin
;
Yoel Hirsch
;
Rachel Rock
;
Liat Salzer Sheelo
;
Yael Goldberg
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
저자
by
Limor Kalfon
;
Meirav Baydany
;
Nadra Samra
;
Nawaf Heno
;
Zvi Segal
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
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7 . Academic Journal
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
저자
by
Tova Hershkovitz
;
Alina Kurolap
;
Galit Tal
;
Tamar Paperna
;
Adi Mory
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100699- (2021)
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7 . Academic Journal
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment
저자
by
Andrea E. DeBarber
;
Limor Kalfon
;
Ayalla Fedida
;
Vered Fleisher Sheffer
;
Shani Ben Haroush
, et al.
소스
Journal of Lipid Research, Vol 59, Iss 11, Pp 2214-2222 (2018)
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7 . Academic Journal
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
저자
by
Marisa W. Friederich
;
Sharita Timal
;
Christopher A. Powell
;
Cristina Dallabona
;
Alina Kurolap
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
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7 . Academic Journal
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans[S]
저자
by
Yasuhiro Horibata
;
Orly Elpeleg
;
Ayelet Eran
;
Yoshio Hirabayashi
;
David Savitzki
, et al.
소스
Journal of Lipid Research, Vol 59, Iss 6, Pp 1015-1026 (2018)
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7 . Academic Journal
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
저자
by
Ronen Bar-Yoseph
;
Galit Tal
;
Elena Dumin
;
Moneera Hanna
;
Gur Mainzer
, et al.
소스
Journal of Personalized Medicine, Vol 11, Iss 11, p 1105 (2021)
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7 . Academic Journal
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects
저자
by
Hava Peretz
;
Ayala Lagziel
;
Florian Bittner
;
Mustafa Kabha
;
Meirav Shtauber-Naamati
, et al.
소스
Biomedicines, Vol 9, Iss 7, p 788 (2021)
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7 . Academic Journal
Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
저자
by
Tzipora C Falik‐Zaccai
;
Yiftah Barsheshet
;
Hanna Mandel
;
Meital Segev
;
Avraham Lorber
, et al.
소스
EMBO Molecular Medicine, Vol 9, Iss 3, Pp 319-336 (2017)
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